Today is Rare Disease Day and I’m proud to share with you a little bit about this unique day. Rare Disease Day started in 2008. It’s a day to bring awareness to the many rare diseases in our world and the people who live with them.
This year the theme is Equity. Because these rare diseases (also called orphan diseases) aren’t often found, pharmaceutical companies won’t research them and create drugs for treatments. People with rare diseases face discrimination in the healthcare industry, employment, and socially.
When a health condition is misunderstood, people are left without treatments or hope. They can be left out of society because their circumstances are not understood or believed. Seventy percent of rare diseases are genetic.
The percent of the population that has rare diseases is between 3.5-5.9. Most of these diseases have no cure and many times there are no or few treatments available. 94% of those with rare diseases have an inability to access higher education. So, they’re very limited in career choices.
Why do I care about rare diseases? Because I have some myself. Hypermobile Ehlers Danlos Syndrome is a rare disease that I have that affects the connective tissue. I write about it often on the blog and it causes me much pain. Another rare disease that has started in my body is Cutaneous T-Cell Lymphoma. I’m currently undergoing phototherapy as a treatment for this cancer.
Mast Cell Activation Syndrome is another rare disease that I live with. I’ve had numerous episodes of Anaphylaxis, which is a main symptom of this condition that is life-threatening. Having rare diseases brings fear because most doctors know much less about them than well-known diseases.
Going to a general practitioner or even a specialist isn’t always helpful. Doctors who have treatment experience or knowledge of my diseases are hard to find. Many times, patients must spend a lot of time doing their own research to find doctors who are actually able to help them. Sometimes we are offered a chance to be a test-subject. I was once offered this chance, but was told that I would have to sign a waiver.
The doctors weren’t able to give me any guarantees of my safety, because everything would be experimental. Even though I would be in a hospital setting during the study, I refused because I didn’t want to suffer harm or die from the tests.
If you learn of people who have a rare disease, or something you’ve never heard of, please believe it and offer your concern or support. As we share our stories on this special day, we thank you for reading and listening. It means so much to be heard.
@2021, copyright Lisa Ehrman
Disclaimer: I’m not a medical expert. This post is not to be taken as medical advice. If you have a medical concern, please consult your personal physician.